1.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
2.Incidence of complicated appendicitis before and after the COVID-19 pandemic: a comparative analysis
Haksoo KIM ; Dongkil JEONG ; Young Soon CHO ; Geum Jong SONG ; Hyung Jun MOON ; Tae Yong SHIN ; Dong Wook LEE ; Hyun Joon KIM ; Hyun Jung LEE ; Sun In HONG
Journal of the Korean Society of Emergency Medicine 2025;36(1):12-19
Objective:
It has been 1 year since the start of the worldwide coronavirus disease-19 (COVID-19) pandemic. This study analyzed the indirect effects of COVID-19 on treating patients with non-infectious diseases by comparing the incidence of complicated appendicitis before and after the pandemic.
Methods:
The target group included patients aged at least 16 years diagnosed with acute appendicitis between February 23 and July 31, 2020. Patients diagnosed during the same period in 2019 were selected as the control group. The differences in the incidence of complicated appendicitis before and after COVID-19 were investigated, and the association with various variables was analyzed using the odds ratios and 95% confidence intervals (CIs).
Results:
The study included 120 subjects in 2019 (pre-COVID group) and 119 cases in 2020 (post-COVID group). The pre-COVID group included 25 cases (20.8%) of complicated appendicitis, while the post-COVID group included 48 cases (40.3%). The median time from symptom onset to visit (pre-hospital time) increased from 15 to 22 hours, and the median time from the visit to surgery (in-hospital time) increased from 7 to 11 hours. Multivariate regression analysis of the three variables revealed odds ratios (95% CIs) of pre-hospital time, erythrocyte sedimentation rate, and inclusion in the post-COVID group of 1.02 (1.01-1.02), 2.07 (1.11-3.86), and 2.15 (1.12-4.11), respectively.
Conclusion
The incidence of complicated appendicitis increased after the COVID-19 pandemic. Therefore, a healthcare system that can minimize the delay in treating non-infectious emergency patients is needed.
3.Nephrogenic diabetes insipidus secondary to COVID-19 infection in a patient on lithium medication: a case report
Jong-In CHOI ; Somin LEE ; Hyun Lee KIM ; Jong-Hoon CHUNG ; Byung Chul SHIN ; Youngmin YOON
Journal of the Korean Society of Emergency Medicine 2025;36(1):41-44
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria and polydipsia, high serum osmolality, and low urine osmolality because of resistance to antidiuretic hormone. Lithium is commonly used to treat psychiatric disorders, and NDI is one of the common renal side effects of lithium therapy. On the other hand, NDI induced by lithium medication in a patient after a coronavirus disease-19 (COVID-19) infection has not been reported. This paper presents a patient who developed new-onset NDI secondary to a COVID-19 infection despite being on a stable lithium dose for several years. This case highlights the importance of considering a COVID-19 infection as a possible cause of NDI in patients taking lithium medication.
4.Posterior Lumbar Element Enforcement by Decompression Alone with Interspinous Fixation without Interbody Fusion for the Surgical Management of Lumbar Spondylolisthesis
Hyun-Woong PARK ; Moon-Soo HAN ; Ji-Ho JUNG ; Jong-Hwan HONG ; Shin-Seok LEE ; Jung-Kil LEE
Journal of Korean Neurosurgical Society 2025;68(2):150-158
Objective:
: In degenerative lumbar spondylolisthesis, interbody fusion surgery (IFS) has long been recommended as the gold standard of surgical management. However, IFS is less recommended for high-risk patients such as the elderly because it involves extensive surgery, with a long operation time and high volumes of blood loss, which lead to marked perioperative morbidity. We report an alternative primary and salvage treatment technique for high-risk lumbar spondylolisthesis through posterior lumbar element reinforcement using interspinous fixation and decompression alone without interbody fusion.
Methods:
: Plain radiographs, computed tomography scans, and magnetic resonance imaging, taken at different intervals, were used to measure local disc height (DH), vertebral body slippage (BS), and segmental motion angle (SMA). A Visual analogue scale and the Oswestry disability index (ODI) were applied pre-operation and at the last follow-up.
Results:
: The local SMA decreased significantly by 3.46°±3.07°, from 10.61°±3.42° preoperatively to 7.15±3.70 at the last follow-up (p<0.001). The DH decreased from 8.61±2.88 mm preoperatively to 8.41±2.48 mm at the last follow-up (p=0.074). The BS decreased from 3.49±4.29 mm preoperatively to 3.41±4.91 mm at the last follow-up (p=0.092). None of the patients reported worsening pain or an increased ODI after surgery, and there were no surgery-related complications.
Conclusion
: Posterior lumbar element reinforcement by decompression alone with SPIRE™ fixation is an alternative primary and salvage treatment option for select patients with spondylolisthesis.
5.Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
Hyunkee KIM ; Jung Hyun LEE ; Dongju WON ; Jong Rak CHOI ; Ha Young SHIN ; Seung Hyun KIM
Journal of the Korean Neurological Association 2025;43(1):35-39
Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
6.Incidence of complicated appendicitis before and after the COVID-19 pandemic: a comparative analysis
Haksoo KIM ; Dongkil JEONG ; Young Soon CHO ; Geum Jong SONG ; Hyung Jun MOON ; Tae Yong SHIN ; Dong Wook LEE ; Hyun Joon KIM ; Hyun Jung LEE ; Sun In HONG
Journal of the Korean Society of Emergency Medicine 2025;36(1):12-19
Objective:
It has been 1 year since the start of the worldwide coronavirus disease-19 (COVID-19) pandemic. This study analyzed the indirect effects of COVID-19 on treating patients with non-infectious diseases by comparing the incidence of complicated appendicitis before and after the pandemic.
Methods:
The target group included patients aged at least 16 years diagnosed with acute appendicitis between February 23 and July 31, 2020. Patients diagnosed during the same period in 2019 were selected as the control group. The differences in the incidence of complicated appendicitis before and after COVID-19 were investigated, and the association with various variables was analyzed using the odds ratios and 95% confidence intervals (CIs).
Results:
The study included 120 subjects in 2019 (pre-COVID group) and 119 cases in 2020 (post-COVID group). The pre-COVID group included 25 cases (20.8%) of complicated appendicitis, while the post-COVID group included 48 cases (40.3%). The median time from symptom onset to visit (pre-hospital time) increased from 15 to 22 hours, and the median time from the visit to surgery (in-hospital time) increased from 7 to 11 hours. Multivariate regression analysis of the three variables revealed odds ratios (95% CIs) of pre-hospital time, erythrocyte sedimentation rate, and inclusion in the post-COVID group of 1.02 (1.01-1.02), 2.07 (1.11-3.86), and 2.15 (1.12-4.11), respectively.
Conclusion
The incidence of complicated appendicitis increased after the COVID-19 pandemic. Therefore, a healthcare system that can minimize the delay in treating non-infectious emergency patients is needed.
7.Nephrogenic diabetes insipidus secondary to COVID-19 infection in a patient on lithium medication: a case report
Jong-In CHOI ; Somin LEE ; Hyun Lee KIM ; Jong-Hoon CHUNG ; Byung Chul SHIN ; Youngmin YOON
Journal of the Korean Society of Emergency Medicine 2025;36(1):41-44
Nephrogenic diabetes insipidus (NDI) is characterized by polyuria and polydipsia, high serum osmolality, and low urine osmolality because of resistance to antidiuretic hormone. Lithium is commonly used to treat psychiatric disorders, and NDI is one of the common renal side effects of lithium therapy. On the other hand, NDI induced by lithium medication in a patient after a coronavirus disease-19 (COVID-19) infection has not been reported. This paper presents a patient who developed new-onset NDI secondary to a COVID-19 infection despite being on a stable lithium dose for several years. This case highlights the importance of considering a COVID-19 infection as a possible cause of NDI in patients taking lithium medication.
9.Effects of Deep Learning-Based Reconstruction on the Quality of Accelerated Contrast-Enhanced Neck MRI
Minkook SEO ; Kook-Jin AHN ; Hyun-Soo LEE ; Marcel Dominik NICKEL ; Jinhee JANG ; Yeon Jong HUH ; Ilah SHIN ; Ji Young LEE ; Bum-soo KIM
Korean Journal of Radiology 2025;26(5):446-459
Objective:
To compare the quality of deep learning-reconstructed turbo spin-echo (DL-TSE) and conventionally interpolated turbo spin-echo (Conv-TSE) techniques in contrast-enhanced MRI of the neck.
Materials and Methods:
Contrast-enhanced T1-weighted DL-TSE and Conv-TSE images were acquired using 3T scanners from 106 patients. DL-TSE employed a closed-source, ‘work-in-progress’ (WIP No. 1062, iTSE, version 10; Siemens Healthineers) algorithm for interpolation and denoising to achieve the same in-plane resolution (axial: 0.26 x 0.26 mm 2 ; coronal: 0.29 x 0.29 mm 2 ) while reducing scan times by 15.9% and 52.6% for axial and coronal scans, respectively. The full width at half maximum (FWHM) and percent signal ghosting were measured using stationary and flow phantom scans, respectively. In patient images, non-uniformity (NU), contrast-to-noise ratio (CNR), and regional mucosal FWHM were evaluated. Two neuroradiologists visually rated the patient images for overall quality, sharpness, regional mucosal conspicuity, artifacts, and lesions using a 5-point Likert scale.
Results:
FWHM in the stationary phantom scan was consistently sharper in DL-TSE. The percent signal ghosting outside the flow phantom was lower in DL-TSE (0.06% vs. 0.14%) but higher within the phantom (8.92% vs. 1.75%) compared to ConvTSE. In patient scans, DL-TSE showed non-inferior NU and higher CNR. Regional mucosal FWHM was significantly better in DL-TSE, particularly in the oropharynx (coronal: 1.08 ± 0.31 vs. 1.52 ± 0.46 mm) and hypopharynx (coronal: 1.26 ± 0.35 vs. 1.91 ± 0.56 mm) (both P < 0.001). DL-TSE demonstrated higher overall image quality (axial: 4.61 ± 0.49 vs. 3.32 ± 0.54) and sharpness (axial: 4.40 ± 0.56 vs. 3.11 ± 0.53) (both P < 0.001). In addition, mucosal conspicuity was improved, especially in the oropharynx (axial: 4.41 ± 0.67 vs. 3.40 ± 0.69) and hypopharynx (axial: 4.45 ± 0.58 vs. 3.58 ± 0.63) (both P < 0.001).Extracorporeal ghost artifacts were reduced in DL-TSE (axial: 4.32 ± 0.60 vs. 3.90 ± 0.71, P < 0.001) but artifacts overlapping anatomical structures were slightly more pronounced (axial: 3.78 ± 0.74 vs. 3.95 ± 0.72, P < 0.001). Lesions were detected with higher confidence in DL-TSE.
Conclusion
DL-based reconstruction applied to accelerated neck MRI improves overall image quality, sharpness, mucosal conspicuity in motion-prone regions, and lesion detection confidence. Despite more pronounced ghost artifacts overlapping anatomical structures, DL-TSE enables substantial scan time reduction while enhancing diagnostic performance.
10.Comparative Analysis of Romosozumab Versus Vertebroplasty With Denosumab: Efficacy, Safety, and Secondary Bone Mineral Density Outcomes
Hyun Woong MUN ; Jong Joo LEE ; Hyun Chul SHIN ; Tae-Hwan KIM ; Seok Woo KIM ; Jae Keun OH
Neurospine 2025;22(1):69-77
Objective:
This study aimed to compare the efficacy and safety of romosozumab, a bone anabolic agent, versus vertebroplasty, a conventional surgical intervention, in treating osteoporotic vertebral compression fractures (OVCFs).
Methods:
A retrospective analysis included 86 thoracic/lumbar compression fracture patients from 2014 to 2022 at a medical center. Forty-two patients received romosozumab (monthly injections for 1 year) followed by 1 year of denosumab, while 44 underwent vertebroplasty followed by denosumab injections biannually for 2 years. Outcomes were assessed using the Numerical Rating Scale (NRS) for pain, bone mineral density (BMD), vertebral compression ratio, and Cobb angle over 12 months.
Results:
At 12 months, the romosozumab group showed a greater reduction in NRS scores (4.90 ± 1.01 vs. 4.27 ± 1.34, p = 0.015) and a higher increase in lumbar BMD (0.8 ± 0.5 vs. 0.5 ± 0.3, p = 0.000) compared to the vertebroplasty group. There were no significant differences in changes in hip total BMD and femur neck BMD (p = 0.190, p = 0.167, respectively). Radiographic assessments showed no significant differences in vertebral compression ratio (14.7% vs. 14.8%; p = 0.960) or Cobb angle (4.2° vs. 4.9°; p = 0.302). The incidence of major osteoporotic fractures was lower in the romosozumab group (7.1% vs. 25.0%, p = 0.051), with similar rates of cardiovascular events in both groups (4.8% vs. 9.1%, p = 0.716).
Conclusion
Romosozumab has demonstrated superior pain reduction and lumbar BMD improvement compared to vertebroplasty at 12 months, with no significant differences in radiographic outcomes or adverse events, suggesting it as an alternative to vertebroplasty for OVCF.

Result Analysis
Print
Save
E-mail